Newborn screening [NEW TOPIC PAGE]

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Last Posted: Dec 13, 2018

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• Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.
  DiBattista Alicia et al. Journal of proteome research 2018 Dec
• Secondary research uses of residual newborn screening dried bloodspots: a scoping review.
  Rothwell Erin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
• Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
  Canda Ebru et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Aug 31(8) 917-926
• The current state of sickle cell trait: implications for reproductive and genetic counseling.
  Pecker Lydia H et al. Hematology. American Society of Hematology. Education Program 2018 Nov 2018(1) 474-481
• White Paper: Pathways to Progress in Newborn Screening for Sickle Cell Disease in Sub-Saharan Africa.
  Hsu Lewis et al. Journal of tropical diseases & public health 2018 6(2) 260
• Capacity building and networking to make newborn screening for sickle cell disease a reality in Haiti.
  Saint Fleur Rony et al. Blood advances 2018 Nov 2(Suppl 1) 54-55
• A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults
  M. Murray and the Genomics and Population Health Action Collaborative, National Academies of Medicine, December 3, 2018
• Hunter Syndrome: Is It Time to Make It Part of Newborn Screening?
  Joseph Rachel et al. Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2018 Dec 18(6) 480-487
• Implementing Genomics-Based Screening Programs for Healthy Adults: A Proposed Evidence-based Approach from the Genomics and Population Health Action Collaborative
  Khoury MJ et al, Blog Post, December 3, 2018
• The current state of sickle-cell trait: implications for reproductive and genetic counseling.
  Pecker Lydia H et al. Blood 2018 Nov

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